In a study by Ajmone et al of 23 patients with RSTS, brain magnetic resonance imaging (MRI) revealed that 73.6% of the cohort had dysmorphia of the corpus callosum, with or without the presence of other anomalies, such as minor dysmorphia of the cerebellar vermis and hyperintensity of the posterior periventricular white matter. In addition, whole-spine MRI scans indicated a greater tendency for patients with RSTS to have a low-lying conus medullaris without thickening of the filum terminale.
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Elaine H Zackai, MD Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia